Τα Ψυχοκοινωνικά Ελλείμματα των Παιδιών με Διαταραχές Σχολικών Ικανοτήτων

Δεδομένης της αναγκαιότητας της εκπαίδευσης για την κοινωνικοοικονομική απόδοση και ανέλιξη στη πορεία της ζωής, οι πρώιμες ακαδημαϊκές προσπάθειες και αποτυχίες μπορούν να έχουν μακροπρόθεσμες συνέπειες εάν δεν αντιμετωπιστούν. Τα παιδιά αντιμετωπίζουν ποικίλες προκλήσεις σε όλη τη διάρκεια της σχολικής τους σταδιοδρομίας. Επιπλέον, οι μαθησιακές δυσκολίες μπορούν να εκδηλωθούν σε συννοσηρότητα με άλλες νευρολογικές και ψυχολογικές δυσκολίες, αν και δεν είναι η κύρια αιτία. Είναι επομένως απαραίτητο, να υπογραμμιστεί η ανάγκη μεγαλύτερης ευαισθητοποίησης για τις δυσκολίες που μπορεί να έχουν τα παιδιά και οι έφηβοι, να εντοπίζονται εγκαίρως καθώς και να γίνονται προβλέψεις για έγκαιρες παρεμβάσεις. Σκοπός της μελέτης αυτής είναι η διερεύνηση ύπαρξης συμπτωμάτων εσωτερικευμένων και εξωτερικευμένων συναισθηματικών δυσκολιών, όπως αυτές περιγράφονται από τους Achenbach & Rescorla (2003), σε μαθητές πρωτοβάθμιας και δευτεροβάθμιας εκπαίδευσης με προϋπάρχουσα διάγνωση διαταραχής σχολικών ικανοτήτων. Ο εντοπισμός των συμπτωμάτων αυτών γίνεται με τη χρήση της κλίμακας Achenbach ερωτηματολόγια γονέων (Child Behavior Checklist- CBCL). Το δείγμα που αναλύεται είναι 70(40αγόρια-30κορίτσια) μαθητές και μαθήτριες κάτοικοι της ευρύτερης περιοχής της Αθήνας οι οποίοι εξαιτίας χαμηλών επιδόσεων στις σχολικές απαιτήσεις απευθύνθηκαν στο ΚΚΨΥ Βύρωνα-Καισαριανής και έλαβαν την διάγνωση της Ειδικής Αναπτυξιακής Διαταραχής Σχολικών Ικανοτήτων. Τα δημογραφικά στοιχεία που καταγράφηκαν είναι το φύλο, η ηλικία και η φοίτηση σε γενικό σχολείο. Τα ευρήματα της παρούσης έρευνας δεν συμβαδίζουν σε μεγάλο βαθμό με τα πορίσματα αντίστοιχων μελετών και δεν επιβεβαίωσαν την αρχική υπόθεση πως οι δυσκολίες στη μάθηση συνυπάρχουν με ψυχοκοινωνικές δυσκολίες τουλάχιστον για το συγκεκριμένο δείγμα. Ο σχεδιασμός και τα αποτελέσματα επιτρέπουν την επέκταση του αντικειμένου μελέτης για σκοπούς πρόληψης και παρέμβασης ως προς την αποφυγή εκδηλώσεων ψυχοκοινωνικής δυσχέρειας.Given the circumstances of the necessity of education for socio-economic development, failed attempts in academic field might cause long-lasting consequences in case they are not faced from an early age. During their school life, children deal with multiple challenges, one of them might be learning difficulties. Learning difficulties can appear and exist in combination with other neurological and psychological disorders. Nevertheless, it is essential to highlight the need of a greater awareness regarding the difficulties during childhood and adolescence, in order to have an early assessment and effective intervention. The purpose of the current study is to examine the co-existence of symptoms related to internal and external emotional difficulties, as Achenbach & Rescorla (2003) outline, to students of primary and secondary education already diagnosed with learning difficulties. The symptoms above are detected using the scale Achenbach parents’ questionnaires (Child Behavior Checklist- CBCL). As regards the sample, 70 students (40 boys- 30 girls) from the wider area of Athens participate. Those 70 students had contacted the Mental Health Centre of Virona-Kaisariani and were diagnosed with Specific Developmental Disorders of Scholastic Skills. The demographics that were taken into consideration are the sex, the age and the class. The findings of the present study are not in line with the results of other studies in this field and did not confirm the original hypothesis that learning difficulties coexist with psychosocial difficulties, at least for this sample. The design and the results allow the further study for preventions’ and interventions’ purposes, in order to avoid manifestations of psychosocial difficulties

Composite trait Mendelian randomization reveals distinct metabolic and lifestyle consequences of differences in body shape

Obesity is a major risk factor for a wide range of cardiometabolic diseases, however the impact of specific aspects of body morphology remains poorly understood. We combined the GWAS summary statistics of fourteen anthropometric traits from UK Biobank through principal component analysis to reveal four major independent axes: body size, adiposity, predisposition to abdominal fat deposition, and lean mass. Mendelian randomization analysis showed that although body size and adiposity both contribute to the consequences of BMI, many of their effects are distinct, such as body size increasing the risk of cardiac arrhythmia (b = 0.06, p = 4.2 ∗ 10 <sup>-17</sup> ) while adiposity instead increased that of ischemic heart disease (b = 0.079, p = 8.2 ∗ 10 <sup>-21</sup> ). The body mass-neutral component predisposing to abdominal fat deposition, likely reflecting a shift from subcutaneous to visceral fat, exhibited health effects that were weaker but specifically linked to lipotoxicity, such as ischemic heart disease (b = 0.067, p = 9.4 ∗ 10 <sup>-14</sup> ) and diabetes (b = 0.082, p = 5.9 ∗ 10 <sup>-19</sup> ). Combining their independent predicted effects significantly improved the prediction of obesity-related diseases (p < 10 <sup>-10</sup> ). The presented decomposition approach sheds light on the biological mechanisms underlying the heterogeneity of body morphology and its consequences on health and lifestyle

Combination therapy as a potential risk factor for the development of type 2 diabetes in patients with schizophrenia: the GOMAP study.

BACKGROUND: Schizophrenia (SCZ) is associated with increased risk of type 2 diabetes (T2D). The potential diabetogenic effect of concomitant application of psychotropic treatment classes in patients with SCZ has not yet been evaluated. The overarching goal of the Genetic Overlap between Metabolic and Psychiatric disease (GOMAP) study is to assess the effect of pharmacological, anthropometric, lifestyle and clinical measurements, helping elucidate the mechanisms underlying the aetiology of T2D. METHODS: The GOMAP case-control study (Genetic Overlap between Metabolic and Psychiatric disease) includes hospitalized patients with SCZ, some of whom have T2D. We enrolled 1653 patients with SCZ; 611 with T2D and 1042 patients without T2D. This is the first study of SCZ and T2D comorbidity at this scale in the Greek population. We retrieved detailed information on first- and second-generation antipsychotics (FGA, SGA), antidepressants and mood stabilizers, applied as monotherapy, 2-drug combination, or as 3- or more drug combination. We assessed the effects of psychotropic medication, body mass index, duration of schizophrenia, number of hospitalizations and physical activity on risk of T2D. Using logistic regression, we calculated crude and adjusted odds ratios (OR) to identify associations between demographic factors and the psychiatric medications. RESULTS: Patients with SCZ on a combination of at least three different classes of psychiatric drugs had a higher risk of T2D [OR 1.81 (95% CI 1.22-2.69); p = 0.003] compared to FGA alone therapy, after adjustment for age, BMI, sex, duration of SCZ and number of hospitalizations. We did not find evidence for an association of SGA use or the combination of drugs belonging to two different classes of psychiatric medications with increased risk of T2D [1.27 (0.84-1.93), p = 0.259 and 0.98 (0.71-1.35), p = 0.885, respectively] compared to FGA use. CONCLUSIONS: We find an increased risk of T2D in patients with SCZ who take a combination of at least three different psychotropic medication classes compared to patients whose medication consists only of one or two classes of drugs

A saturated map of common genetic variants associated with human height

Common single-nucleotide polymorphisms (SNPs) are predicted to collectively explain 40-50% of phenotypic variation in human height, but identifying the specific variants and associated regions requires huge sample sizes(1). Here, using data from a genome-wide association study of 5.4 million individuals of diverse ancestries, we show that 12,111 independent SNPs that are significantly associated with height account for nearly all of the common SNP-based heritability. These SNPs are clustered within 7,209 non-overlapping genomic segments with a mean size of around 90 kb, covering about 21% of the genome. The density of independent associations varies across the genome and the regions of increased density are enriched for biologically relevant genes. In out-of-sample estimation and prediction, the 12,111 SNPs (or all SNPs in the HapMap 3 panel(2)) account for 40% (45%) of phenotypic variance in populations of European ancestry but only around 10-20% (14-24%) in populations of other ancestries. Effect sizes, associated regions and gene prioritization are similar across ancestries, indicating that reduced prediction accuracy is likely to be explained by linkage disequilibrium and differences in allele frequency within associated regions. Finally, we show that the relevant biological pathways are detectable with smaller sample sizes than are needed to implicate causal genes and variants. Overall, this study provides a comprehensive map of specific genomic regions that contain the vast majority of common height-associated variants. Although this map is saturated for populations of European ancestry, further research is needed to achieve equivalent saturation in other ancestries. A large genome-wide association study of more than 5 million individuals reveals that 12,111 single-nucleotide polymorphisms account for nearly all the heritability of height attributable to common genetic variants.Peer reviewe

Evaluating the glucose raising effect of established loci via a genetic risk score.

Recent genome-wide association studies have identified several single nucleotide polymorphisms (SNPs) associated with glucose levels. We tested the hypothesis here whether the cumulative effect of glucose raising SNPs, assessed via a score, is associated with glucose levels. A total of 1,434 participants of Greek descent from the THISEAS study and 1,160 participants form the GOMAP study were included in this analysis. We developed a genetic risk score (GRS), based on the known glucose-raising loci, in order to investigate the cumulative effect of known glucose loci on glucose levels. In the THISEAS study, the GRS score was significantly associated with increased glucose levels (mmol/L) (β ± SE: 0.024 ± 0.004, P = 8.27e-07). The effect of the genetic risk score was also significant in the GOMAP study (β ± SE: 0.011 ± 0.005, P = 0.031). In the meta-analysis of the two studies both scores were significantly associated with higher glucose levels GRS: β ± SE: 0.019 ± 0.003, P = 1.41e-09. Also, variants at the SLC30A8, PROX1, MTNR1B, ADRA2A, G6PC2, LPIN3 loci indicated nominal evidence for association with glucose levels (p < 0.05). We replicate associations of the established glucose raising variants in the Greek population and confirm directional consistency of effects (binomial sign test p = 6.96e-05). We also demonstrate that the cumulative effect of the established glucose loci yielded a significant association with increasing glucose levels

Protein-coding variants implicate novel genes related to lipid homeostasis contributing to body-fat distribution.

Body-fat distribution is a risk factor for adverse cardiovascular health consequences. We analyzed the association of body-fat distribution, assessed by waist-to-hip ratio adjusted for body mass index, with 228,985 predicted coding and splice site variants available on exome arrays in up to 344,369 individuals from five major ancestries (discovery) and 132,177 European-ancestry individuals (validation). We identified 15 common (minor allele frequency, MAF ≥5%) and nine low-frequency or rare (MAF &lt;5%) coding novel variants. Pathway/gene set enrichment analyses identified lipid particle, adiponectin, abnormal white adipose tissue physiology and bone development and morphology as important contributors to fat distribution, while cross-trait associations highlight cardiometabolic traits. In functional follow-up analyses, specifically in Drosophila RNAi-knockdowns, we observed a significant increase in the total body triglyceride levels for two genes (DNAH10 and PLXND1). We implicate novel genes in fat distribution, stressing the importance of interrogating low-frequency and protein-coding variants

Implicating genes, pleiotropy, and sexual dimorphism at blood lipid loci through multi-ancestry meta-analysis

Background: Genetic variants within nearly 1000 loci are known to contribute to modulation of blood lipid levels. However, the biological pathways underlying these associations are frequently unknown, limiting understanding of these findings and hindering downstream translational efforts such as drug target discovery. Results: To expand our understanding of the underlying biological pathways and mechanisms controlling blood lipid levels, we leverage a large multi-ancestry meta-analysis (N = 1,654,960) of blood lipids to prioritize putative causal genes for 2286 lipid associations using six gene prediction approaches. Using phenome-wide association (PheWAS) scans, we identify relationships of genetically predicted lipid levels to other diseases and conditions. We confirm known pleiotropic associations with cardiovascular phenotypes and determine novel associations, notably with cholelithiasis risk. We perform sex-stratified GWAS meta-analysis of lipid levels and show that 3-5% of autosomal lipid-associated loci demonstrate sex-biased effects. Finally, we report 21 novel lipid loci identified on the X chromosome. Many of the sex-biased autosomal and X chromosome lipid loci show pleiotropic associations with sex hormones, emphasizing the role of hormone regulation in lipid metabolism. Conclusions: Taken together, our findings provide insights into the biological mechanisms through which associated variants lead to altered lipid levels and potentially cardiovascular disease risk